中国汉族人群Semaphorin 5A基因多态性与帕金森病易感性的关联研究

目的 探讨Semaphorin 5A(SEMA5A)基因多态性与帕金森病(PD)易感性的关系.方法 选择244例帕金森病患者和174名正常对照,利用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测中国汉族人群中SEMA5A基因的两个基因多态性位点(SNP)和帕金森病易感性的关系,并用基因测序验证结果.结果 SEMA5A基因的多态性位点rs7702187和rs3798097(rs7702187:OR(基因型AT)=0.95,95%CI 0.61～1.48,OR(基因型AA)=1.84,95% CI 0.85～3.99,OR(基因型AT+AA)=1.21,95%CI 0.82～1.77,P>0.05;rs3798097:OR(基因型CT)=1.06,95% CI 0.62～1.79,OR(基因型TT)=0.72,95% CI 0.10～5.18,OR(基因型CT+TT)=1.01,95%CI 0.62～1.67,P>0.05)与PD易感性之间无关联性;与最常见的单倍型TC相比,AC单倍型,TT单倍型均与PD易感性无关(AC单倍型:OR=1.19,95%CI 0.84～1.69,P>0.05;TT单倍型:OR=0.99,95% CI 0.59～1.70,P>0.05).结论 中国汉族人群中,SEMA5A基因与PD发病无相关性.

Correlation study of semaphorin 5a with risk of Parkinson's disease in a Chinese Han population

Objective To investigate the relationship of Semaphorin 5A (SEMA5A) and risk of Parkinson's disease (PD). Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was used to check two single nucleotide polymorphisms (SNPs) within SEMA5A in 244 PD patients and 174 healthy control subjects of Chinese Han ancestry. And the results were verified by gene sequencing. Results The SEMA5A variant genotype (allele) of rs7702187 and ra3798097 had no correlation with the risk of PD in the samples (rs7702187:OR (genotype AT) 0.95,95 % CI 0.61-1.48, OR (genotype AA)=1.84, 95% CI 0.85-3.99, OR(genotype AT+AA)=1.21, 95% CI 0.82-1.77, P> 0.05; rs3798097:OR (genotype CT)=1.06, 95% CI 0.62-1.79,OR(genotypo TT) =0.72, 95% CI 0.10 - 5. 18, OR(genotype CT + TT) = 1.01, 95% CI 0.62-1.67, P>0.05). Comparing with the most common haplotype TC, neither AC haplotype nor TT haplotype showed any correlation with risk of PD (OR=1.19, 95% CI 0.84-1.69 for AC haplotype P>0.05;OR=0.99, 95% CI 0.59-1.70 for TT haplotype, P>0.05). Conclusion SEMA5A is not implicated in PD risk in a Chinese Han population.